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<i>Sod1</i> trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal <i>Ret</i> suppression and glial remodeling

2026-01-28

Abstract excerpt

Down syndrome (DS; trisomy 21) confers a ∼100-fold increased risk of Hirschsprung disease (HSCR), yet the causal contributions of specific chromosome 21 genes remain unresolved. Here we show that increased dosage of SOD1 alone is sufficient to perturb enteric nervous system (ENS) development. We engineered a humanized SOD1 trisomic mouse line by inserting a 28 kb human SOD1 locus into ROSA26 and genetically prof...

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Identifiers and source

Literature Corpus work
3e636894-8300-51b1-aaf7-cef3c1688e50
DOI
10.64898/2026.01.26.701837
Open publication

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<i>Sod1</i> trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal <i>Ret</i> suppression and glial remodelingDOI 10.64898/2026.01.26.701837
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